Article
SUPT16H-associated neurodevelopmental disorder and neurocristopathy: genetic and phenotypic spectrum.
Human molecular genetics - 23 Feb 2026
Lee Eunhye, Sim Seungmin, Choi Hee-Jung, Liang Eugene Y, Le Carolyn, Bina Roya, Cohen Ryan, George Elizabeth, Kim Soo Yeon, Bhat Gifty, Falsey Erin, Sidlow Richard, Clinard Kristin, Ben-Shachar Shay, England Eleina, Menendez Beatriz, Herman Isabella, Nielsen Shelly, Punetha Jaya, Bhola Priya, Hamm J Austin, Keeney Megan A, Sitzman Nike, Berger Sara, Mehta Lakshmi, Conn Alison J, Downie Lilian, Ashfaq Myla, Northrup Hope, Bruel Ange-Line, Odent Sylvie, Szot Justin O, Martinez Noelia Nunez, Park Sunju, Refkin Julie, Good Jean-Marc, Maurer Fabienne, Le Caignec Cédric, Coman David J, Anderson Erin, Richards Linda J, Dean Ryan J, Yang Caleb, Choi Chulwon, Hwang Byung Joon, Lee Jin Sook, Dobyns William B, Choi Murim, Sherr Elliott H, Chae Jong-Hee, Kee Yun, Argilli Emanuela
Abstract excerpt
SUPT16H encodes a subunit of the FACT (FAcilitates Chromatin Transcription) complex, a histone chaperone essential for maintaining chromatin integrity during transcription, replication, and DNA repair. Pathogenic de novo SUPT16H missense variants have previously been linked to neurodevelopmental disorders in eight individuals. Here, we expand the genotypic and phenotypic spectrum by identifying 24 additional...
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